Incidental Mutation 'R8918:Snap91'
| ID |
679057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snap91
|
| Ensembl Gene |
ENSMUSG00000033419 |
| Gene Name |
synaptosomal-associated protein 91 |
| Synonyms |
F1-20, 91kDa, AP180 |
| MMRRC Submission |
068705-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R8918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
86647976-86762707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86651611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 810
(S810P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036347]
[ENSMUST00000074468]
[ENSMUST00000074501]
[ENSMUST00000098495]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036347
AA Change: S840P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046189
Gene: ENSMUSG00000033419
AA Change: S840P
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
8.41e-48 |
SMART |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
559 |
586 |
3.27e-5 |
PROSPERO |
|
internal_repeat_1
|
584 |
611 |
3.27e-5 |
PROSPERO |
|
low complexity region
|
616 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
814 |
N/A |
INTRINSIC |
|
low complexity region
|
850 |
862 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074468
AA Change: S873P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074066
Gene: ENSMUSG00000033419
AA Change: S873P
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
8.41e-48 |
SMART |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
477 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
558 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
559 |
586 |
6.86e-5 |
PROSPERO |
|
internal_repeat_1
|
584 |
611 |
6.86e-5 |
PROSPERO |
|
low complexity region
|
616 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
762 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
847 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
895 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074501
|
| SMART Domains |
Protein: ENSMUSP00000074095
Gene: ENSMUSG00000033419
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
8.41e-48 |
SMART |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
554 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000098495
AA Change: S810P
|
| SMART Domains |
Protein: ENSMUSP00000096096
Gene: ENSMUSG00000033419
AA Change: S810P
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
20 |
145 |
8.41e-48 |
SMART |
|
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
551 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
552 |
579 |
4.67e-5 |
PROSPERO |
|
internal_repeat_1
|
577 |
604 |
4.67e-5 |
PROSPERO |
|
low complexity region
|
609 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
727 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
832 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display postnatal growth retardation, limb clasping, altered behavior, defects in synaptic vesicle reformation, impaired neurotransmission, excitatory/inhibitory imbalance, epileptic seizures, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,333,315 (GRCm39) |
F480L |
probably damaging |
Het |
| Actr6 |
A |
T |
10: 89,553,057 (GRCm39) |
I267N |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,737,380 (GRCm39) |
S2835P |
unknown |
Het |
| Arfgef3 |
C |
T |
10: 18,511,453 (GRCm39) |
R753Q |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,784,765 (GRCm39) |
T285A |
probably benign |
Het |
| Atad5 |
T |
C |
11: 79,986,473 (GRCm39) |
V520A |
probably benign |
Het |
| Atoh1 |
T |
G |
6: 64,707,241 (GRCm39) |
L312R |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,696,841 (GRCm39) |
K884R |
possibly damaging |
Het |
| Cpt1a |
T |
C |
19: 3,408,258 (GRCm39) |
V179A |
|
Het |
| Crocc2 |
C |
A |
1: 93,129,144 (GRCm39) |
N816K |
possibly damaging |
Het |
| Csf2ra |
A |
T |
19: 61,214,721 (GRCm39) |
V201D |
probably damaging |
Het |
| Dok1 |
C |
T |
6: 83,008,324 (GRCm39) |
V453I |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,662,600 (GRCm39) |
S175P |
probably benign |
Het |
| Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,748,733 (GRCm39) |
S357N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,811,246 (GRCm39) |
T1478A |
probably benign |
Het |
| Gabra1 |
A |
G |
11: 42,026,320 (GRCm39) |
F324S |
probably damaging |
Het |
| Gm11437 |
T |
C |
11: 84,043,530 (GRCm39) |
T254A |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,599,706 (GRCm39) |
E726G |
probably damaging |
Het |
| Gstm2 |
A |
T |
3: 107,892,382 (GRCm39) |
C115S |
possibly damaging |
Het |
| Ighv1-12 |
T |
C |
12: 114,579,553 (GRCm39) |
T90A |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,572,703 (GRCm39) |
I690V |
unknown |
Het |
| Kdm3b |
A |
G |
18: 34,970,650 (GRCm39) |
N1739S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,893 (GRCm39) |
N3614K |
|
Het |
| Mapk8ip3 |
A |
G |
17: 25,131,727 (GRCm39) |
L404P |
probably damaging |
Het |
| Mcl1 |
T |
C |
3: 95,567,192 (GRCm39) |
F251S |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,744,579 (GRCm39) |
L4038* |
probably null |
Het |
| Mmp8 |
T |
C |
9: 7,561,485 (GRCm39) |
V163A |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
| Ndst1 |
C |
T |
18: 60,825,083 (GRCm39) |
R745H |
probably benign |
Het |
| Or4d2b |
A |
G |
11: 87,780,284 (GRCm39) |
V146A |
probably benign |
Het |
| Or8c18 |
T |
C |
9: 38,203,385 (GRCm39) |
F48S |
probably benign |
Het |
| Pard3 |
C |
T |
8: 128,098,011 (GRCm39) |
R351C |
probably benign |
Het |
| Pcdhgb4 |
A |
G |
18: 37,855,648 (GRCm39) |
D681G |
probably damaging |
Het |
| Pde10a |
G |
A |
17: 9,160,063 (GRCm39) |
A163T |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,296,505 (GRCm39) |
L123S |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,906,621 (GRCm39) |
D1152G |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,098 (GRCm39) |
T1015A |
probably benign |
Het |
| Rock2 |
C |
T |
12: 16,990,422 (GRCm39) |
Q115* |
probably null |
Het |
| Rorb |
T |
A |
19: 18,915,356 (GRCm39) |
H434L |
probably damaging |
Het |
| Safb2 |
A |
T |
17: 56,882,975 (GRCm39) |
C219* |
probably null |
Het |
| Sema3a |
A |
G |
5: 13,573,099 (GRCm39) |
H209R |
probably damaging |
Het |
| Serpinb9g |
T |
G |
13: 33,679,131 (GRCm39) |
S334A |
probably benign |
Het |
| Slc5a9 |
T |
A |
4: 111,741,147 (GRCm39) |
M500L |
probably benign |
Het |
| Spink5 |
G |
T |
18: 44,100,087 (GRCm39) |
A35S |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 36,954,892 (GRCm39) |
T887I |
|
Het |
| Tacc2 |
T |
C |
7: 130,227,823 (GRCm39) |
F1503L |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,180,000 (GRCm39) |
E272G |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,015,117 (GRCm39) |
I24F |
probably benign |
Het |
| Tshr |
G |
A |
12: 91,504,211 (GRCm39) |
S383N |
probably benign |
Het |
| Tspan1 |
C |
A |
4: 116,020,970 (GRCm39) |
C149F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,570,862 (GRCm39) |
L26677Q |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,270,017 (GRCm39) |
F1755I |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,772,873 (GRCm39) |
I4047F |
|
Het |
| Zfp1010 |
A |
C |
2: 176,958,551 (GRCm39) |
S29R |
probably benign |
Het |
| Zfp369 |
T |
A |
13: 65,443,529 (GRCm39) |
L336* |
probably null |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zfp984 |
T |
C |
4: 147,840,623 (GRCm39) |
H76R |
possibly damaging |
Het |
| Zscan10 |
G |
A |
17: 23,826,116 (GRCm39) |
G138S |
probably benign |
Het |
|
| Other mutations in Snap91 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Snap91
|
APN |
9 |
86,703,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01147:Snap91
|
APN |
9 |
86,680,611 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01358:Snap91
|
APN |
9 |
86,688,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01501:Snap91
|
APN |
9 |
86,720,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01883:Snap91
|
APN |
9 |
86,657,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02632:Snap91
|
APN |
9 |
86,721,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02864:Snap91
|
APN |
9 |
86,720,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03276:Snap91
|
APN |
9 |
86,707,065 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
PIT4514001:Snap91
|
UTSW |
9 |
86,761,486 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1564:Snap91
|
UTSW |
9 |
86,674,249 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1804:Snap91
|
UTSW |
9 |
86,665,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1840:Snap91
|
UTSW |
9 |
86,697,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Snap91
|
UTSW |
9 |
86,672,194 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2156:Snap91
|
UTSW |
9 |
86,707,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2221:Snap91
|
UTSW |
9 |
86,674,580 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2223:Snap91
|
UTSW |
9 |
86,674,580 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2233:Snap91
|
UTSW |
9 |
86,680,624 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2680:Snap91
|
UTSW |
9 |
86,761,603 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R3077:Snap91
|
UTSW |
9 |
86,720,907 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3702:Snap91
|
UTSW |
9 |
86,688,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3840:Snap91
|
UTSW |
9 |
86,721,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3912:Snap91
|
UTSW |
9 |
86,674,610 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3913:Snap91
|
UTSW |
9 |
86,674,610 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3958:Snap91
|
UTSW |
9 |
86,720,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Snap91
|
UTSW |
9 |
86,657,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Snap91
|
UTSW |
9 |
86,659,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4133:Snap91
|
UTSW |
9 |
86,659,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4641:Snap91
|
UTSW |
9 |
86,761,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Snap91
|
UTSW |
9 |
86,674,070 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4770:Snap91
|
UTSW |
9 |
86,655,654 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4798:Snap91
|
UTSW |
9 |
86,665,507 (GRCm39) |
intron |
probably benign |
|
|
R4849:Snap91
|
UTSW |
9 |
86,674,613 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4991:Snap91
|
UTSW |
9 |
86,672,207 (GRCm39) |
splice site |
probably null |
|
|
R5200:Snap91
|
UTSW |
9 |
86,697,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Snap91
|
UTSW |
9 |
86,717,177 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5644:Snap91
|
UTSW |
9 |
86,672,206 (GRCm39) |
splice site |
probably null |
|
|
R6029:Snap91
|
UTSW |
9 |
86,707,133 (GRCm39) |
splice site |
probably null |
|
|
R6091:Snap91
|
UTSW |
9 |
86,721,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Snap91
|
UTSW |
9 |
86,707,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Snap91
|
UTSW |
9 |
86,720,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6611:Snap91
|
UTSW |
9 |
86,672,180 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6764:Snap91
|
UTSW |
9 |
86,674,234 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6881:Snap91
|
UTSW |
9 |
86,655,646 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7201:Snap91
|
UTSW |
9 |
86,672,199 (GRCm39) |
splice site |
probably null |
|
|
R7223:Snap91
|
UTSW |
9 |
86,761,610 (GRCm39) |
start gained |
probably benign |
|
|
R7247:Snap91
|
UTSW |
9 |
86,674,669 (GRCm39) |
missense |
unknown |
|
|
R7327:Snap91
|
UTSW |
9 |
86,655,598 (GRCm39) |
missense |
unknown |
|
|
R7520:Snap91
|
UTSW |
9 |
86,721,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Snap91
|
UTSW |
9 |
86,688,547 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7616:Snap91
|
UTSW |
9 |
86,721,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Snap91
|
UTSW |
9 |
86,707,031 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7750:Snap91
|
UTSW |
9 |
86,680,762 (GRCm39) |
splice site |
probably null |
|
|
R8747:Snap91
|
UTSW |
9 |
86,686,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9171:Snap91
|
UTSW |
9 |
86,680,672 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9512:Snap91
|
UTSW |
9 |
86,665,392 (GRCm39) |
missense |
unknown |
|
|
R9764:Snap91
|
UTSW |
9 |
86,707,094 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
X0027:Snap91
|
UTSW |
9 |
86,680,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAACAATACCATACCTGGAACAGTT -3'
(R):5'- ACCTTGGCTGAATCTGATGTCA -3'
Sequencing Primer
(F):5'- TAAGCAATGCACAAGCTCACTATTG -3'
(R):5'- GTGCAAACATCATTCCGAGTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation